232 related articles for article (PubMed ID: 29191498)
1. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH
Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
[TBL] [Abstract][Full Text] [Related]
2. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM; Le Goff C; Leo PJ; Kenna TJ; Keith P; Harris JE; Steer R; Bole-Feysot C; Nitschke P; Kielty C; Brown MA; Zankl A; Duncan EL; Cormier-Daire V
J Med Genet; 2016 Jul; 53(7):457-64. PubMed ID: 27068007
[TBL] [Abstract][Full Text] [Related]
3. Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
Wang Y; Zhang H; Ye J; Han L; Gu X
J Hum Genet; 2014 Oct; 59(10):563-7. PubMed ID: 25142510
[TBL] [Abstract][Full Text] [Related]
4. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V
Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363
[TBL] [Abstract][Full Text] [Related]
5. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C; Mahaut C; Wang LW; Allali S; Abhyankar A; Jensen S; Zylberberg L; Collod-Beroud G; Bonnet D; Alanay Y; Brady AF; Cordier MP; Devriendt K; Genevieve D; Kiper PÖ; Kitoh H; Krakow D; Lynch SA; Le Merrer M; Mégarbane A; Mortier G; Odent S; Polak M; Rohrbach M; Sillence D; Stolte-Dijkstra I; Superti-Furga A; Rimoin DL; Topouchian V; Unger S; Zabel B; Bole-Feysot C; Nitschke P; Handford P; Casanova JL; Boileau C; Apte SS; Munnich A; Cormier-Daire V
Am J Hum Genet; 2011 Jul; 89(1):7-14. PubMed ID: 21683322
[TBL] [Abstract][Full Text] [Related]
7. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
de Bruin C; Finlayson C; Funari MF; Vasques GA; Lucheze Freire B; Lerario AM; Andrew M; Hwa V; Dauber A; Jorge AA
Horm Res Paediatr; 2016; 86(5):342-348. PubMed ID: 27245183
[TBL] [Abstract][Full Text] [Related]
8. Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
Hasegawa K; Numakura C; Tanaka H; Furujo M; Kubo T; Higuchi Y; Yamashita M; Tsukahara H
J Pediatr Endocrinol Metab; 2017 Jan; 30(1):117-121. PubMed ID: 27935852
[TBL] [Abstract][Full Text] [Related]
9. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
Hubmacher D; Taye N; Balic Z; Thacker S; Adams SM; Birk DE; Schweitzer R; Apte SS
Matrix Biol; 2019 Sep; 82():38-53. PubMed ID: 30738849
[TBL] [Abstract][Full Text] [Related]
10. A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D; Dong H; Zheng H; Song J; Li X; Jin Y; Liu Y; Yang Y
Eur J Med Genet; 2017 Dec; 60(12):685-689. PubMed ID: 28917829
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations in geleophysic dysplasia type 1.
Porayette P; Fruitman D; Lauzon JL; Le Goff C; Cormier-Daire V; Sanders SP; Pinto-Rojas A; Perez-Atayde AR
Pediatr Dev Pathol; 2014; 17(3):209-16. PubMed ID: 24251637
[TBL] [Abstract][Full Text] [Related]
12. Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.
Wang T; Yang Y; Dong Q; Zhu H; Liu Y
Mol Genet Genomic Med; 2020 Jul; 8(7):e1282. PubMed ID: 32406602
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
[TBL] [Abstract][Full Text] [Related]
14. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P; Thierry B; Dancasius A; Cavau A; Michot C; Rondeau S; Baujat G; Phan G; Bonnière M; Le Bourgeois M; Khraiche D; Pejin Z; Bonnet D; Delacourt C; Cormier-Daire V
Genet Med; 2021 Feb; 23(2):331-340. PubMed ID: 33082559
[TBL] [Abstract][Full Text] [Related]
15. From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C; Cormier-Daire V
Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):145-53. PubMed ID: 22791552
[TBL] [Abstract][Full Text] [Related]
16. Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.
Stanley S; Balic Z; Hubmacher D
Ann N Y Acad Sci; 2021 Apr; 1490(1):57-76. PubMed ID: 32880985
[TBL] [Abstract][Full Text] [Related]
17. Fibrillin protein pleiotropy: Acromelic dysplasias.
Sakai LY; Keene DR
Matrix Biol; 2019 Jul; 80():6-13. PubMed ID: 30219651
[TBL] [Abstract][Full Text] [Related]
18. A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
Lee T; Takeshima Y; Okizuka Y; Hamahira K; Kusunoki N; Awano H; Yagi M; Sakai N; Matsuo M; Iijima K
Gene; 2013 Jan; 512(2):456-9. PubMed ID: 23124041
[TBL] [Abstract][Full Text] [Related]
19. Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.
Hubmacher D; Wang LW; Mecham RP; Reinhardt DP; Apte SS
Dis Model Mech; 2015 May; 8(5):487-99. PubMed ID: 25762570
[TBL] [Abstract][Full Text] [Related]
20. Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
Newell K; Smith W; Ghoshhajra B; Isselbacher E; Lin A; Lindsay ME
Am J Med Genet A; 2017 Sep; 173(9):2551-2556. PubMed ID: 28696036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
